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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Embryonal neoplasm
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Accession:HP:0002898 term browser browse the term
Synonyms:exact_synonym: Embryonal neoplasia;   Embryonal tumors;   Embryonal tumours
 xref: UMLS:C0027654


show annotations for term's descendants           Sort by:
Embryonal neoplasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL10 BCL10 immune signaling adaptor IAGP HPO MIM:273300 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:273300 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:273300 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:273300 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Atypical teratoid/rhabdoid tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:613325 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Embryonal rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO MIM:180295 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP HPO MIM:268210 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Hepatoblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar
HPO		 PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 More... MIM:175100 ORPHA:261584 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar
HPO		 PMID:26822237 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More... NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DROSHA drosha ribonuclease III IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:36965188 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:27666373 PMID:28492532 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:35264596 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NDRG4 NDRG family member 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G RECQL RecQ like helicase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Nephroblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Wilms tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:194070 MIM:613029 ORPHA:654 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G C1S complement C1s IAGP HPO MIM:617174 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO MIM:145001 ORPHA:143 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO MIM:180295 MIM:618272 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 ORPHA:2849 ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:194070 MIM:312870 ORPHA:373 ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:194070 MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO MIM:194070 ORPHA:2128 ORPHA:654 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 MIM:180860 MIM:194071 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 MIM:180860 MIM:194070 ORPHA:2128 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 ORPHA:2128 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Wilm's tumor
ClinVar Annotator: match by term: Wilms tumor		 ClinVar PMID:15266301 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Wilms tumor
ClinVar Annotator: match by term: Nephroblastoma		 ClinVar PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX6 paired box 6 IAGP HPO MIM:194072 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:602501 MIM:612918 ORPHA:140944 ORPHA:276280 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO MIM:601583 ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO MIM:616806 ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TET2-AS1 TET2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,353,011 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:151623 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar
HPO		 PMID:25741868 PMID:32699065 ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO MIM:617598 ORPHA:1052 ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Wilm's tumor
ClinVar Annotator: match by term: Wilms tumor
ClinVar Annotator: match by term: Nephroblastoma		 ClinVar
HPO		 PMID:9108089 PMID:15266301 PMID:15483024 PMID:18559874 PMID:18591546 More... MIM:194070 MIM:194072 MIM:194080 MIM:256370 ORPHA:220 ORPHA:251510 ORPHA:347 ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Nephroblastomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
Ovarian dermoid cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH3 mutS homolog 3 IAGP HPO ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Presacral teratoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO MIM:176450 ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
Retinoblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO MIM:259500 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G LOC124885096 Sharpr-MPRA regulatory region 1366 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,199,453...48,199,747 JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,233,452...48,233,661 JBrowse link
G LOC130009753 ATAC-STARR-seq lymphoblastoid active region 7725 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,287,247...48,287,306 JBrowse link
G LOC130009754 ATAC-STARR-seq lymphoblastoid active region 7726 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 More... NCBI chr13:48,304,403...48,304,452 JBrowse link
G LOC130009755 ATAC-STARR-seq lymphoblastoid active region 7727 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 More... NCBI chr13:48,304,693...48,304,762 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:20090211 PMID:21505449 More... NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704 		JBrowse link
G MAX MYC associated factor X IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MED4 mediator complex subunit 4 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NUDT15 nudix hydrolase 15 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Retinoblastoma
DNA:mutations:exon, intron:multiple		 ClinVar
HPO
RGD		 PMID:1298292 PMID:1352398 PMID:1352883 PMID:1577465 PMID:1662795 More... MIM:180200 MIM:259500 ORPHA:1587, RGD:8547984, RGD:8547986 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RB1-DT RB1 divergent transcript IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:1881452 PMID:8049153 PMID:12541220 PMID:25741868 PMID:28492532 More... NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,291,549...48,303,723 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar NCBI chr13:48,488,963...48,535,895
Ensembl chr13:48,488,963...48,533,256 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:17096365 PMID:28492532 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:259500 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Sacrococcygeal teratoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
Teratoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF1 ALF transcription elongation factor 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:86,935,011...87,141,039
Ensembl chr 4:86,935,002...87,141,039 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:17,513,435...17,697,875
Ensembl chr 1:17,539,698...17,697,874 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO MIM:273300 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G ETNK1 ethanolamine kinase 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:22,625,171...22,690,665
Ensembl chr12:22,625,075...22,690,665 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:273300 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:273300 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LOC126862230 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:93523977-93525176 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:92,980,747...92,981,946 JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809 		JBrowse link
G POLQ DNA polymerase theta IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:121,431,431...121,545,988
Ensembl chr 3:121,431,431...121,545,988 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr17:5,282,284...5,386,340
Ensembl chr17:5,282,265...5,386,340 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:205,657,851...205,680,509
Ensembl chr 1:205,657,851...205,680,509 		JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:127,652,194...128,092,593
Ensembl chr 7:127,652,194...128,092,609 		JBrowse link
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:273300 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP ClinVar Annotator: match by term: Teratoma ClinVar PMID:25741868 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Neoplasm 15251
        Neoplasm by histology 2037
          Embryonal neoplasm 177
            Atypical teratoid/rhabdoid tumor 3
            Embryonal renal neoplasm + 59
            Embryonal rhabdomyosarcoma 6
            Hepatoblastoma 79
            Retinoblastoma 23
            Teratoma + 36
paths to the root